Journal Article

Blood biomarker discovery for autism spectrum disorder: A proteomic analysis

Lee, Jeon, German, Dwight C., Schutte, Claire, Mathews, Jeremy A., Devlin, Morgan, Hewitson, Laura

2021

Overview

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and social interaction and restricted, repetitive patterns of behavior, interests, or activities. Given the lack of specific pharmacological therapy for ASD and the clinical heterogeneity of the disorder, current biomarker research efforts are geared mainly toward identifying markers for determining ASD risk or for assisting with a diagnosis. A wide range of putative biological markers for ASD is currently being investigated. Proteomic analyses indicate that the levels of many proteins in plasma/serum are altered in ASD, suggesting that a panel of proteins may provide a blood biomarker for ASD. Serum samples from 76 boys with ASD and 78 typically developing (TD) boys, 18 months-8 years of age, were analyzed to identify possible early biological markers for ASD. Proteomic analysis of serum was performed using SomaLogic’s SOMAScan TM assay 1.3K platform. A total of 1,125 proteins were analyzed. There were 86 downregulated proteins and 52 upregulated proteins in ASD (FDR < 0.05). Combining three different algorithms, we found a panel of 9 proteins that identified ASD with an area under the curve (AUC) = 0.8599±0.0640, with specificity and sensitivity of 0.8217±0.1178 and 0.835±0.1176, respectively. All 9 proteins were significantly different in ASD compared with TD boys, and were significantly correlated with ASD severity as measured by ADOS total scores. Using machine learning methods, a panel of serum proteins was identified that may be useful as a blood biomarker for ASD in boys. Further verification of the protein biomarker panel with independent test sets is warranted.

• Publisher: Public Library of Science,Public Library of Science (PLoS)
• Subject: Algorithms / Area Under Curve / Autism / Autism Spectrum Disorder - metabolism / Behavior / Bioinformatics / Biological computing / Biological markers / Biology and Life Sciences / Biomarkers / Biomarkers - metabolism / Blood / Blood proteins / Children / Children & youth / Childrens health / Communication / Computational neuroscience / Computer and Information Sciences / Computer programs / Data analysis / Diagnosis / Drafting software / Editing / Health aspects / Health care / Health care facilities / Humans / Identification and classification / Machine Learning / Medical examination / Medical research / Medicine and Health Sciences / Medicine, Experimental / Methodology / Neurodevelopmental disorders / People and Places / Pervasive developmental disorders / Proteins / Proteomics - methods / Protocol (computers) / Psychiatry / Social factors / Social Sciences / Software / Visualization